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 Aniridia is a rare genetic bilateral panocular disorder affecting cornea, anterior chamber, iris, lens, retina, macula and optic nerve.

Two thirds of the cases are familiar, and one third is sporadic. It is caused by mutations of PAX6 genes. Mutations give rise to alteration in the corneal cytokeratin expression, cell adhesion and glycoconjugate proteins expression.

Aniridia may results in keratopaty and cataract; iris is deficient and optic nerve, macula e fovea are hypoplastic. Glaucoma may also occur during adolescence years.

It may be found in isolation or in association with extralocular disorders such as mental retardation, genitourinary abnormalities and the Wilm’s tumour.

The visual acuity may range from 1 to 2 /10.

Published 05-26-2011 in Guidelines that are in development , last update 05-26-2011 More...


Tuberous sclerosis

 Tuberous sclerosis complex (TSC) is a genetic disorder characterised by a multisystem involvement with variable expression of clinical manifestations. The prevalence ranges from 1 in 13,000 to 1 in 30,000 in the general population and 1 in 6,800 in children aged 11 to 15 years.

TSC can be inherited as an autosomal dominant trait, although most cases are thought to be sporadic mutations with no family history of the disease. The condition results from mutations in the TSC1 and TSC2 genes, located on chromosomes 9q34 and 16p13.3, respectively. TSC1 encodes a 130-kDa protein TSC1/hamartin and TSC2 encodes a 200-kDa protein TSC2/tuberin. Both TSC1 and TSC2 proteins (hamartin/tuberin complex) modulate cell functions and serve as keystones in regulating cell growth and proliferation...

Published 05-26-2011 in Guidelines that are in development , last update 05-26-2011 More...


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